Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Fatigable weakness (HP:0003473)

Parent Node:
Fatigable weakness of skeletal muscles (HP:0030197)

..Starting node
..Fatigable weakness of distal limb muscles (HP:0030198)

Term ID:

30198

Name:

Fatigable weakness of distal limb muscles

Synonym:

Definition:

A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.

Comments:

Reference:

HP:0030198

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fatigable weakness of neck muscles (HP:0030199)

Fatiguable weakness of proximal limb muscles (HP:0030200)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent	286
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0030198	HP:0030198	Fatigable weakness of distal limb muscles	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54

Genes (8) :ACTA1 CFL2 HINT1 KLHL41 LDB3 LMOD3 NEB TPM2

Diseases (3) :ORPHA:171436 ORPHA:324442 ORPHA:98912

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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